Canonical Allele Identifier: CA363158234

Gene: SLC17A1

Linked Data

• gnomAD v4: 6-25812976-T-C
• MyVariant Identifiers: chr6:g.25813204T>C (hg19) ; chr6:g.25812976T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812976T>C , CM000668.2:g.25812976T>C	GRCh38
NC_000006.11:g.25813204T>C , CM000668.1:g.25813204T>C	GRCh37
NC_000006.10:g.25921183T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.752A>G MANE Select	ENSP00000244527.4:p.Gln251Arg
ENST00000244527.8:c.752A>G	ENSP00000244527.4:p.Gln251Arg
ENST00000377886.6:c.*3A>G	ENSP00000367118.2:n.*3A>G
ENST00000468082.1:c.735+119A>G	ENSP00000420546.1:n.735+119A>G
ENST00000476801.5:c.752A>G	ENSP00000420614.1:p.Gln251Arg
NM_005074.3:c.752A>G	NP_005065.2:p.Gln251Arg
XM_011514818.1:c.752A>G	XP_011513120.1:p.Gln251Arg
XM_011514819.1:c.665A>G	XP_011513121.1:p.Gln222Arg
XM_011514820.1:c.735+119A>G	XP_011513122.1:n.735+119A>G
XM_011514821.1:c.539A>G	XP_011513123.1:p.Gln180Arg
XM_011514818.2:c.902A>G	XP_011513120.2:p.Gln301Arg
XM_011514819.2:c.815A>G	XP_011513121.2:p.Gln272Arg
XM_011514820.2:c.885+119A>G	XP_011513122.2:n.885+119A>G
XM_011514821.2:c.539A>G	XP_011513123.1:p.Gln180Arg
XM_017011199.1:c.902A>G	XP_016866688.1:p.Gln301Arg
XM_017011200.1:c.902A>G	XP_016866689.1:p.Gln301Arg
XM_017011201.2:c.902A>G	XP_016866690.1:p.Gln301Arg
XM_017011202.1:c.818A>G	XP_016866691.1:p.Gln273Arg
NM_005074.5:c.752A>G MANE Select	NP_005065.2:p.Gln251Arg